Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies (Q28237280)

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scientific article (publication date: July 2014)

Language	Label	Description	Also known as
English	Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies	scientific article (publication date: July 2014)

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scholarly article

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Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies (English)

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congenital disorder

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Eugenio Mercuri

23

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Marianne de Visser

31

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Brigitte Gilbert-Dussardier

11

object named as

Brigitte Gilbert-Dussardier

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Minttu Marttila

object named as

Minttu Marttila

1

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Mikaela Grönholm

object named as

Mikaela Grönholm

40

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Vilma-Lotta Lehtokari

object named as

Vilma-Lotta Lehtokari

2

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object named as

Katarina Pelin

39

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object named as

Laurent Magy

20

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object named as

Tuula A Nyman

4

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object named as

Kathryn N North

24

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object named as

Alan H Beggs

6

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object named as

Nigel G Laing

35

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object named as

Enrico Bertini

7

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38

object named as

Nigel F Clarke

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author name string

Steven Marston

3

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Christine Barnerias

5

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Ozge Ceyhan-Birsoy

8

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Pascal Cintas

9

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Marion Gerard

10

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Jacob S Hogue

12

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Cheryl Longman

13

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Bruno Eymard

14

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Moshe Frydman

15

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Peter B Kang

16

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Lars Klinge

17

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Hanna Kolski

18

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Hans Lochmüller

19

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Véronique Manel

21

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Michèle Mayer

22

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Sylviane Peudenier-Robert

25

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Helena Pihko

26

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Frank J Probst

27

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Ricardo Reisin

28

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Willie Stewart

29

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Ana Lia Taratuto

30

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Ekkehard Wilichowski

32

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John Winer

33

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Kristen Nowak

34

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Tom L Winder

36

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Nicole Monnier

37

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Carina Wallgren-Pettersson

41

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language of work or name

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publication date

July 2014

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35

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7

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779-90

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Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

Structure of the Rigor Actin-Tropomyosin-Myosin Complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

Cap disease due to mutation of the beta-tropomyosin gene (TPM2)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

Structural basis for tropomyosin overlap in thin (actin) filaments and the generation of a molecular swivel by troponin-T

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

Tropomyosin isoforms: divining rods for actin cytoskeleton function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

Vertebrate tropomyosin: distribution, properties and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

Functional properties of non-muscle tropomyosin isoforms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

Atomic model of the actin filament

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

Specific phosphorylation at serine-283 of alpha tropomyosin from frog skeletal and rabbit skeletal and cardiac muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

Importance of internal regions and the overall length of tropomyosin for actin binding and regulatory function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

Regulation of contraction in striated muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

Splicing of two internal and four carboxyl-terminal alternative exons in nonmuscle tropomyosin 5 pre-mRNA is independently regulated during development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

20 March 2017

A tissue-specific atlas of mouse protein phosphorylation and expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

7 April 2017

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

7 April 2017

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

29 September 2017

Tropomyosin Ser-283 pseudo-phosphorylation slows myofibril relaxation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

29 September 2017

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

29 September 2017

Myopathies associated with β-tropomyosin mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

29 September 2017

Nemaline myopathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

29 September 2017

Evolutionarily conserved surface residues constitute actin binding sites of tropomyosin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

29 September 2017

Tropomyosin position on F-actin revealed by EM reconstruction and computational chemistry.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

29 September 2017

Cytosolic RNA recognition pathway activates 14-3-3 protein mediated signaling and caspase-dependent disruption of cytokeratin network in human keratinocytes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

29 September 2017

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

29 September 2017

Mutations in TPM3 are a common cause of congenital fiber type disproportion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

29 September 2017

Structure of the mid-region of tropomyosin: bending and binding sites for actin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

29 September 2017

Expression and biological activity of Baculovirus generated wild-type human slow alpha tropomyosin and the Met9Arg mutant responsible for a dominant form of nemaline myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

29 September 2017

Identification of mouse liver proteins on two-dimensional electrophoresis gels by matrix-assisted laser desorption/ionization mass spectrometry of in situ enzymatic digests

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

29 September 2017

Developmental Analysis of Tropomyosin Gene Expression in Embryonic Stem Cells and Mouse Embryos

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

29 September 2017

Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

2 June 2018

LIGHT AND ELECTRON MICROSCOPIC STUDIES OF "MYOGRANULES" IN A CHILD WITH HYPOTONIA AND MUSCLE WEAKNESS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

2 June 2018

Tropomyosin isoforms in nonmuscle cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

2 June 2018

Isolation and characterization of tropomyosin-containing microfilaments from cultured cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

2 June 2018

The 14-fold periodicity in alpha-tropomyosin and the interaction with actin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

2 June 2018

Crystal structure and molecular interactions of tropomyosin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

2 June 2018

Multiple combinations of alternatively spliced exons in rat tropomyosin-alpha gene mRNA: evidence for 20 new isoforms in adult tissues and cultured cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22554

21 January 2018

De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22554

21 January 2018

Shark skeletal muscle tropomyosin is a phosphoprotein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22554

21 January 2018

Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain- or loss-of-function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22554

21 January 2018

NEMALINE MYOPATHY

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22554

21 January 2018

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22554

21 January 2018

Genotype?phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle ?-actin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22554

21 January 2018

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22554

21 January 2018

A new familial arthrogryposis without weakness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

27 November 2018

"Cap disease": new congenital myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200603

27 November 2018

Actin dynamics: tropomyosin provides stability

1 reference

https://pubmed.ncbi.nlm.nih.gov/24692096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phosphorylation of tropomyosin in live frog muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/24692096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of phosphorylation on the interaction and functional properties of rabbit striated muscle alpha alpha-tropomyosin

1 reference

https://pubmed.ncbi.nlm.nih.gov/24692096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A TPM3 mutation causing cap myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/24692096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia

1 reference

https://pubmed.ncbi.nlm.nih.gov/24692096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein phosphorylation and expression profiling by Yin-yang multidimensional liquid chromatography (Yin-yang MDLC) mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/24692096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study

1 reference

https://pubmed.ncbi.nlm.nih.gov/24692096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.22554

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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